A Case of Solitary Fibrous Tumor on the Foot.
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ABSTRACT:
SUBMITTER: Lee KH
PROVIDER: S-EPMC10608379 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
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A Case of Solitary Fibrous Tumor on the Foot.
Lee Ki Hun KH Lee Seung Yeon SY Lim Bora B Park Kun K
Annals of dermatology 20230501 Suppl 1
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Project description:Solitary fibrous tumor (SFT) is a rare, soft tissue neoplasm that rarely presents in breast tissue, with only 27 previously reported cases. To our knowledge, only one case of malignant SFT has been reported in the English literature. A 75-year-old Caucasian woman presented to our institution with a 3-month history of a palpable left breast mass. No other symptoms, including nipple discharge or skin changes, were noted. She underwent 3 previous biopsies for right breast masses, all of which were benign, with no evidence of spindle cell neoplasm, atypical hyperplasia, or malignancy. Microscopic examination of the mass demonstrated a classic area of SFT with areas of high-grade anaplastic component. In these areas, the tumor showed atypical epithelioid cells arranged in hypercellular sheets with diminished branching vasculature, nuclear pleomorphism, and increased mitotic count (up to 9/10 high-power fields). This case represents the second case of malignant SFT in the breast.
| S-EPMC6597415 | biostudies-literature
Project description:Solitary fibrous tumors (SFT) is a rare type of soft tissue tumors and there have been only a few reported cases of SFTs at the perineum region. We report a SFT below the pubic bone in a 35-year-old male causing compression on his corpus spongiosum. The patient underwent en bloc tumor resection with preservation of spermatic vessels and the bladder neck. Pathological evaluation and immunohistochemistry (IHC) staining with CD34(+), CD99(+), STAT6(+), S100(-) and Desmin(-) confirmed the diagnosis of SFT. Surgery plays a key role in treatment strategies and pathological examination with IHC is important in the diagnosis of SFTs.
| S-EPMC7005559 | biostudies-literature
Project description:Solitary fibrous tumors (SFT) are mesenchymal neoplasms with a favorable prognosis usually originating from the visceral pleura. Rarely, they may occur at various extrapleural sites and show malignant behavior coupled with dedifferentiation. NAB2-STAT6 fusion gene and STAT6 nuclear expression are biomarkers for diagnosis of SFT in addition to CD34, Bcl-2, and CD99. Furthermore, several reports have shown specific NAB2-STAT6 fusion variants and loss of STAT6 protein expression are associated with malignancy. We report a rare case of retroperitoneal SFT which rapidly progressed to death within 35 days after admission. Autopsy found a primary tumor containing both benign and malignant histologies, with multiple metastatic sites similar to the malignant, dedifferentiated tumor. STAT6 was detected in the primary differentiated tumor but not in the primary dedifferentiated tumor or lung/liver metastases. However, the NAB2-STAT6 fusion gene (NAB2ex6/STAT6ex16 variant) was detected in the primary tumor and lung/liver metastases. Intriguingly, fusion gene expression at the transcriptional level was downregulated in the dedifferentiated tumors compared to the differentiated tumor. We further performed target DNA sequencing and found gene mutations in TP53, FLT3, and AR in the dedifferentiated tumors, with TP53 mutations especially found among them. We demonstrate that downregulation of NAB2-STAT6 fusion gene at the transcriptional level is associated with malignant SFT for the first time. Moreover, the present study supports the idea that TP53 mutations promote malignancy in SFTs.
| S-EPMC8727594 | biostudies-literature
Project description:BackgroundSolitary fibrous tumor (SFT) is a rare mesenchymal neoplasm, generally arising in the visceral pleura. It rarely originates from other sites such as trachea, orbital cavities, nasal cavities, peritoneum, paranasal sinuses, meninges, salivary glands, thyroid gland, diaphragm, liver, pancreas, lung kidney, adrenal gland, mediastinum, spermatid cord, pericardium, urinary bladder, prostate, uterine cervix, testis, spinal cord, periosteum, skin, soft tissue and bone.Case descriptionWe present a surgical case of a rare primary tracheal tumor. High resolution computed tomography (HRCT) scan of the chest showed a 5 mm hypodense lesion, located on the right lateral wall of the proximal third of trachea; however the tracheal lumen was normal. We performed a rigid bronchoscopy in order to remove the endotracheal tumor with palliative purposes only. For this reason, we did not perform a prior histologic examination. The lesion was easily removed with common biopsy forceps and with standard aspirator. The debulking of the tumor was achieved with the use of laser Nd-YAP, electrocautery was used also for hemostasis to prevent bleeding during the operation. Without complications during the endoscopic treatment, the procedure was well tolerated by the patient. The pathological diagnosis was SFT.ConclusionsSFT located in the trachea can be endoscopically resceted. Endoscolical treatment is indicated for patients with poor clinical conditions (heart disease, respiratory failure) that are not elegible for surgical resection.
| S-EPMC10080464 | biostudies-literature
Project description:Solitary fibrous tumor (SFT) is a rare fibroblast stroma tumor involving the mediastinum and pleura. We herein describe an SFT of bladder which is extremely rare and review 29 similar cases in the last decades. We present a case of a 52-year-old male patient who suffered from urinary urgency and frequency for 12 months. Non-contrast computed tomography (CT) showed a slightly high density calcified mass with 70 mm × 61 mm in diameter. Contrast-enhanced CT demonstrated the mass was slightly enhanced. Cystoscopy revealed a huge mass with flat surface. Histopathological review of the biopsy specimens could not confirm the diagnosis. Partial cystectomy was then performed and the diagnosis of SFT was confirmed by immunohistochemistry. The patient is doing well at 12 months follow-up without recurrence and metastasis. In conclusion, the diagnosis of SFT involving bladder should combine clinical presentation and imaging features. Complete surgical resection is the primary method and long-term follow-up is necessary.
| S-EPMC7214971 | biostudies-literature
Project description:BackgroundSolitary fibrous tumors (SFTs) are relatively rare spindle cell neoplasms uncommonly seen in dermatology practice. Initially discovered as a pleural tumor, SFTs have also been found in extra-pleural sites including the skin and soft tissues. When arising within the dermis or subcutis they are termed superficial SFTs, where they often present as solitary, unilateral, slow growing superficial masses. Histologically, they are composed of spindle cells arranged in a "patternless" pattern with hemangiopericytoma-like vessels dispersed throughout. Historically, CD34, CD99 and Bcl-2 immunohistochemical (IHC) stains were used to differentiate SFTs from other spindle cell neoplasms, however these markers are not entirely specific. Recent discovery of a disease defining NGFI-A binding protein 2 (NAB2)-signal transducer and activator of transcription 6 (STAT6) fusion gene has led to the use of STAT6 IHC staining to help verify the diagnosis of SFTs, particularly in unexpected sites.Case descriptionWe report a case of a 23-year-old woman with a slowly growing lateral supra-orbital mass, clinically concerning for a dermoid cyst, which was subsequently discovered to be a SFT on pathologic examination, with the diagnosis being verified by STAT6 immunostaining.ConclusionsSFTs are rarely encountered in dermatologic practice, however, must be kept on the differential of subcutaneous nodules, including those occurring in young adults. Due to the rarity of these tumors in clinical practice, a proposed algorithm for the approach to management of SFTs is included, guided by a validated, histology-driven, metastatic risk assessment tool, to help guide other clinicians confronted by these tumors.
| S-EPMC9634459 | biostudies-literature
Project description:Solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms found areas lining the pleura. First reported in 1931, there have been a total of 55 cases of SFTs of the kidney worldwide. In most cases, SFTs presents with hematuria, flank pain, and enlarging abdominal mass. In this case, we report a case of a patient who underwent a radical nephrectomy to remove an SFTs of the kidney with compression of the vena cava. This case further expands upon the importance of diagnosing and assessing the aggressive clinical behavior of SFTs during treatment and follow up.
| S-EPMC6861645 | biostudies-literature
Project description:Solitary fibrous tumors (SFTs) are NAB2-STAT6 fusion-associated neoplasms. There are several subtypes of NAB2-STAT6 fusions, but their clinical significances are still unclear. Moreover, the mechanisms of malignant progression are also poorly understood. In this study, using 91 SFT cases, we examined whether fusion variants are associated with clinicopathological parameters and also investigated the molecular mechanism of malignant transformation using whole-exome sequencing. We detected variant 1b (NAB2ex4-STAT6ex2) in 51/91 (56%) cases and variants 2a/2b (NAB2ex6-STAT6ex16/17) in 17/91 (19%) cases. The NAB2-STAT6 fusion variant types were significantly associated with their primary site (P < 0.001). In addition, a TERT promoter mutation was detected in 7/73 (10%) cases, and it showed a significant association with malignant SFTs (P = 0.003). To identify molecular changes during malignant progression, we selected an index patient to obtain parallel tissue samples from the primary and metastatic tumors. In the metastatic tissue, 10 unique molecular alterations, including those in TP53 and APAF1, were detected. In vitro functional experiments showed that APAF1 depletion increased the tumor potency of cells expressing NAB2-STAT6 fusion protein under treatment with staurosporine. We found that TP53 immunopositivity (P = 0.006) and loss of APAF1 immunoreactivity (P < 0.001) were significantly associated with malignant SFTs. Our study suggests that dysfunction of TP53 and APAF1 leads to impaired apoptotic function, and eventually contributes toward malignant SFT transformation. KEY MESSAGES: We firstly found that the TERT promoter mutation was strongly associated with malignant SFTs (P = 0.003) and the representative 1b (NAB2ex4-STAT6ex2) or 2a (NAB2ex6-STAT6ex16) fusion variants similarly contribute to tumorigenicity. We also found that TP53 immunopositivity (P = 0.006) and loss of APAF1 immunoreactivity (P < 0.001) were significantly associated with malignant SFTs. Our study suggests that dysfunction of TP53 and APAF1 leads to impaired apoptotic function, and eventually contributes toward malignant SFT transformation.
| S-EPMC6746689 | biostudies-literature
Project description:Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2-STAT6, resulting from a paracentric inversion within chromosome 12q, and involving several different exons in each gene. STAT6 (signal transducer and activator of transcription 6) nuclear immunostaining and/or the identification of NAB2-STAT6 gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified by targeted RNA-Seq in a 74-year-old female patient diagnosed with a deep-seated solitary fibrous tumor in the pelvis. Histopathologically, the neoplasm did not display nuclear pleomorphism or tumor necrosis and had a low proliferative index. A total of 378 unique reads spanning the NFIXexon8-STAT6exon2 breakpoint with 55 different start sites were detected in the bioinformatic analysis, which represented 59.5% of the reads intersecting the genomic location on either side of the breakpoint. Targeted RNA-Seq results were validated by RT-PCR/ Sanger sequencing. The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity.
| S-EPMC8305824 | biostudies-literature
Project description:Solitary fibrous tumors (SFTs) can occur in several locations outside the pleura, but rarely in the sinonasal tract, and particularly not in the nasopharynx. Herein, we describe an unusual case of giant cell-rich SFT (GCRSFT) occurring in the nasopharynx. A 64-year-old man experienced dizziness and headache for more than 10 years with no obvious cause. Computed tomography (CT) scan showed a 3.9 cm × 2 cm tumor on the posterior lateral wall of the left nasopharynx, and angiography revealed a hypervascular tumor fed by branches of the left carotid artery. Hence, preoperative embolization was performed, and then the tumor was endoscopically resected. The symptoms were relieved after the resection, and postoperative head CT and video laryngoscopy showed that the tumor was completely resected. We next characterized the specific pathological characteristics of the resected tumor. Histologically, the tumor was characterized by varying cellular proliferation of cytologically bland spindle cells within a collagenous stroma, with prominent interspersed branching vessels. Mitotic activity was low (2/50HPF), and there was no evidence of pleomorphism or tumor necrosis. Moreover, multinucleated giant cells with deep nuclear staining and distributed in pseudovascular spaces were found within the tumor. We ruled out the possibility that our case was giant cell fibroblastoma (GCF) by immunohistochemical analysis, showing that the tumor cells were positive for CD34, CD99, STAT6, and BCL-2, and that the Ki-67 labeling index was 3%, indicating that our case was SFT and not GCF. The patient's condition is generally good after a 14-month follow-up. This report serves to broaden the morphologic spectrum of GCRSFT and will help clinicians and pathologists better understand this entity to prevent misdiagnosis.
| S-EPMC7367732 | biostudies-literature